DisGeNET - a database of gene-disease associations

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs10041590	C5orf17	5	24064827	intron variant	T/C;G	snv			2
rs10054178	C5orf17	5	24059742	intron variant	A/G	snv		7.5E-02	2
rs10056373	C5orf17	5	24069684	intron variant	C/T	snv		7.4E-02	2
rs10119043		9	135122706	downstream gene variant	C/T	snv		0.11	2
rs10827209	NRP1	10	33198261	intron variant	A/C	snv		0.23	2
rs10892961	CLMP	11	123093392	intron variant	A/C;G;T	snv			2
rs11011237	TACC1P1	10	37531016	intron variant	G/A	snv		9.2E-02	2
rs11218976	CLMP	11	123090950	intron variant	A/G	snv		0.41	2
rs11228672	OR5M13P	11	56597931	non coding transcript exon variant	G/A;C	snv			2
rs113051092	C5orf17	5	24060490	intron variant	A/T	snv		7.4E-02	2
rs116965780		18	43300829	intergenic variant	C/T	snv		7.0E-02	2
rs11914494	IGSF11	3	119121264	intron variant	G/A	snv		1.8E-02	2
rs11926663	IGSF11	3	119125638	intron variant	A/G	snv		1.8E-02	2
rs141827060	IGSF11	3	119132020	intron variant	C/T	snv		1.8E-02	2
rs1461494		11	123055777	downstream gene variant	T/A;C	snv			2
rs16893073	C5orf17	5	24072508	intron variant	C/G;T	snv			2
rs17062789	DLGAP2	8	1203198	intron variant	G/A;C	snv			2
rs17062791	DLGAP2	8	1203431	intron variant	C/T	snv		0.14	2
rs1836778		4	29332870	intergenic variant	T/C	snv		0.56	2
rs1966678		4	29322410	intergenic variant	T/G	snv		0.60	2
rs2226150		6	77349634	intergenic variant	G/A	snv		0.49	2
rs2897639	LOC107985172	18	77568791	intergenic variant	C/T	snv		2.3E-02	2
rs34003842	DLGAP2	8	1206131	intron variant	G/A;C;T	snv			2
rs4435343		18	43322011	intergenic variant	C/A;T	snv			2
rs4802	SNORD14E ; HSPA8	11	123057914	synonymous variant	A/C;G	snv	4.1E-06; 0.32		2